Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02341:Ccnk'

289084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccnk

Ensembl Gene

ENSMUSG00000021258

Gene Name

cyclin K

Synonyms

CycK, CPR4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02341

Quality Score

Status

Chromosome

Chromosomal Location

108145838-108169618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108161989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 298 (E298G)

Ref Sequence

ENSEMBL: ENSMUSP00000152784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101055] [ENSMUST00000221167]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000101055
AA Change: E298G

SMART Domains

Protein: ENSMUSP00000098616
Gene: ENSMUSG00000021258
AA Change: E298G

Domain	Start	End	E-Value	Type
CYCLIN	55	149	6.67e-16	SMART
Cyclin_C	158	278	4.83e-1	SMART
CYCLIN	162	256	1.23e-1	SMART
low complexity region	342	361	N/A	INTRINSIC
low complexity region	365	392	N/A	INTRINSIC
low complexity region	404	427	N/A	INTRINSIC
low complexity region	428	446	N/A	INTRINSIC
low complexity region	457	471	N/A	INTRINSIC
low complexity region	476	576	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000221167
AA Change: E298G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223363

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele display complete embryonic lethality before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	C	T	15: 96,270,066 (GRCm39)	S1393L	probably benign	Het
Bahcc1	T	A	11: 120,163,346 (GRCm39)	I548N	probably damaging	Het
Baiap3	A	T	17: 25,467,290 (GRCm39)	L405Q	possibly damaging	Het
Cacna1g	T	G	11: 94,352,978 (GRCm39)	Q349P	probably damaging	Het
Ccdc30	T	C	4: 119,213,978 (GRCm39)	T184A	possibly damaging	Het
Ccdc63	A	G	5: 122,251,261 (GRCm39)	I383T	probably benign	Het
Ccnt1	T	C	15: 98,444,664 (GRCm39)	E223G	possibly damaging	Het
Clcc1	T	A	3: 108,580,699 (GRCm39)	L333I	possibly damaging	Het
Cyp2b10	G	A	7: 25,610,667 (GRCm39)	R59Q	probably benign	Het
Cyp3a41b	T	A	5: 145,510,461 (GRCm39)	T138S	probably benign	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dnah8	A	T	17: 30,966,231 (GRCm39)	I2474F	probably damaging	Het
Dok1	T	C	6: 83,010,035 (GRCm39)	T25A	probably damaging	Het
Ears2	G	A	7: 121,638,987 (GRCm39)	A479V	probably benign	Het
Erc1	T	A	6: 119,571,934 (GRCm39)	I981F	possibly damaging	Het
Gm8730	A	G	8: 103,591,775 (GRCm39)		noncoding transcript	Het
Gm9962	C	T	7: 57,037,042 (GRCm39)		probably benign	Het
Has3	A	T	8: 107,600,637 (GRCm39)	Y33F	probably damaging	Het
Hk1	A	G	10: 62,120,159 (GRCm39)	S607P	possibly damaging	Het
Hlcs	T	A	16: 94,031,969 (GRCm39)	I612F	probably damaging	Het
Llgl2	T	A	11: 115,741,946 (GRCm39)	S663T	possibly damaging	Het
Lrriq1	T	C	10: 103,060,802 (GRCm39)	H100R	probably benign	Het
Lypd8l	T	C	11: 58,503,656 (GRCm39)	S17G	possibly damaging	Het
Magi2	T	A	5: 20,671,201 (GRCm39)	I678N	probably damaging	Het
Megf11	G	A	9: 64,451,902 (GRCm39)	G109S	probably damaging	Het
Morc2b	A	T	17: 33,356,281 (GRCm39)	I497K	probably damaging	Het
Mybpc2	A	C	7: 44,164,354 (GRCm39)	S404A	probably benign	Het
Mylip	A	G	13: 45,544,752 (GRCm39)	R59G	probably damaging	Het
Mylk3	A	T	8: 86,078,601 (GRCm39)	I501N	probably damaging	Het
Myo19	A	G	11: 84,778,871 (GRCm39)		probably benign	Het
Nat2	A	G	8: 67,954,370 (GRCm39)	Y160C	possibly damaging	Het
Nf1	C	T	11: 79,455,752 (GRCm39)	A2554V	probably benign	Het
Niban3	A	T	8: 72,056,443 (GRCm39)	N381I	possibly damaging	Het
Ninl	A	T	2: 150,786,525 (GRCm39)	C153*	probably null	Het
Nlrp5	C	T	7: 23,103,577 (GRCm39)	R15C	probably benign	Het
Nphp4	A	T	4: 152,639,926 (GRCm39)		probably benign	Het
Obscn	C	A	11: 59,026,651 (GRCm39)	R184L	probably benign	Het
Or6c202	T	A	10: 128,996,302 (GRCm39)	I184F	probably benign	Het
Or6c6c	A	T	10: 129,541,358 (GRCm39)	T204S	probably damaging	Het
Or6c8	A	T	10: 128,915,330 (GRCm39)	C167*	probably null	Het
Phip	A	T	9: 82,814,936 (GRCm39)	V262D	probably damaging	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Reck	T	A	4: 43,925,160 (GRCm39)	D466E	probably damaging	Het
Rimbp2	G	T	5: 128,878,025 (GRCm39)	Y213*	probably null	Het
Scn2a	C	T	2: 65,518,721 (GRCm39)	T365M	probably damaging	Het
Scpep1	T	A	11: 88,835,314 (GRCm39)	T120S	probably benign	Het
Sp7	T	A	15: 102,267,657 (GRCm39)	T50S	possibly damaging	Het
Tbc1d1	A	G	5: 64,432,750 (GRCm39)	R304G	probably damaging	Het
Tiam1	A	G	16: 89,695,257 (GRCm39)	S67P	probably damaging	Het
Tjp1	G	A	7: 64,962,382 (GRCm39)	T1185I	probably damaging	Het
Tspan2	T	A	3: 102,672,529 (GRCm39)	I178N	probably damaging	Het
Tusc2	T	A	9: 107,442,109 (GRCm39)	*103R	probably null	Het
Uggt1	A	T	1: 36,203,600 (GRCm39)	*47R	probably null	Het
Unc13c	T	A	9: 73,840,492 (GRCm39)	I120F	possibly damaging	Het
Vcpip1	T	A	1: 9,795,175 (GRCm39)	K1065N	possibly damaging	Het
Zfp532	C	A	18: 65,757,849 (GRCm39)	P594Q	probably damaging	Het

Other mutations in Ccnk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02331:Ccnk	APN	12	108,155,343 (GRCm39)	missense	probably damaging	1.00
IGL02557:Ccnk	APN	12	108,161,985 (GRCm39)	missense	unknown
FR4449:Ccnk	UTSW	12	108,168,766 (GRCm39)	unclassified	probably benign
FR4737:Ccnk	UTSW	12	108,168,766 (GRCm39)	unclassified	probably benign
FR4976:Ccnk	UTSW	12	108,168,766 (GRCm39)	unclassified	probably benign
R0481:Ccnk	UTSW	12	108,165,568 (GRCm39)	unclassified	probably benign
R0725:Ccnk	UTSW	12	108,161,834 (GRCm39)	splice site	probably benign
R1839:Ccnk	UTSW	12	108,161,333 (GRCm39)	missense	probably damaging	1.00
R2144:Ccnk	UTSW	12	108,155,349 (GRCm39)	missense	probably null	1.00
R2903:Ccnk	UTSW	12	108,168,647 (GRCm39)	unclassified	probably benign
R4660:Ccnk	UTSW	12	108,168,575 (GRCm39)	unclassified	probably benign
R5131:Ccnk	UTSW	12	108,168,890 (GRCm39)	unclassified	probably benign
R5404:Ccnk	UTSW	12	108,161,882 (GRCm39)	missense	possibly damaging	0.88
R5843:Ccnk	UTSW	12	108,159,989 (GRCm39)	missense	probably damaging	1.00
R5860:Ccnk	UTSW	12	108,153,466 (GRCm39)	missense	probably damaging	0.99
R6522:Ccnk	UTSW	12	108,153,446 (GRCm39)	missense	probably damaging	0.99
R6864:Ccnk	UTSW	12	108,168,473 (GRCm39)	unclassified	probably benign
R7135:Ccnk	UTSW	12	108,152,734 (GRCm39)	missense	probably damaging	0.96
R7179:Ccnk	UTSW	12	108,153,517 (GRCm39)	missense	probably damaging	1.00
R7278:Ccnk	UTSW	12	108,159,964 (GRCm39)	missense	possibly damaging	0.63
R7592:Ccnk	UTSW	12	108,152,724 (GRCm39)	missense	possibly damaging	0.79
R8191:Ccnk	UTSW	12	108,159,933 (GRCm39)	missense	probably benign	0.27
R8271:Ccnk	UTSW	12	108,162,114 (GRCm39)	splice site	probably benign
R8273:Ccnk	UTSW	12	108,152,758 (GRCm39)	missense	probably damaging	1.00
R9155:Ccnk	UTSW	12	108,159,978 (GRCm39)	missense	probably damaging	1.00
R9279:Ccnk	UTSW	12	108,161,946 (GRCm39)	missense	unknown
R9558:Ccnk	UTSW	12	108,155,397 (GRCm39)	missense	possibly damaging	0.71
R9566:Ccnk	UTSW	12	108,152,695 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16